Skip to main content

Table 1 PAX3-FOXO1 target genes in ARMS

From: Alveolar rhabdomyosarcoma – The molecular drivers of PAX3/7-FOXO1-induced tumorigenesis

Gene Description Regulation References PF target
ABAT 4-Aminobutyrate aminotransferase; Up [7274] Yes
ACTC Actin, alpha, cardiac muscle 1 Up [5, 75] Yes
ADAM10 A disintegrin and metalloproteinase domain 10 Up [73][72] Yes
ADRA2A Alpha-2 adrenergic receptor subtype C10 Up [72, 74, 76] Yes
ADRA2C Alpha-2 adrenergic receptor subtype C4 Up [22, 74, 76] Yes
ALK ALK tyrosine kinase receptor, anaplastic lymphoma kinase Ki-1 Up [22, 72, 74, 76, 77] Yes
ANK2 Ankyrin 2 Up [73, 74, 76] Yes
ASS Argininosuccinate synthase Up [73, 74, 78] ?
ASTN2 Astrotactin 2 Up [72, 76] Yes
BIN1 Bridging integrator 1 Down [72, 79] Yes
BMP5 Bone morphogenic protein 5 Up [7274, 76] Yes
C10ORF6 Family with sequence similarity 178, member A Up [75, 76] Yes
CCND1 Cyclin D1 Down [75][79] ?
CD9 CD9 molecule/Tetraspanin-29 Up [73, 76] Yes
CDH3 Cadherin 3, type 1, P-cadherin (placental) Up [72, 76, 80] Yes
CHD7 Chromodomain helicase DNA-binding protein 7 Up [76, 81] Yes
CKM Creatine kinase M chain, muscle Up [5, 79] Yes
CNR1 Cannabinoid receptor 1 Up [22, 72, 74, 8284] Yes
COL18A1 Collagen type 18 α 1 Up [73, 74] ?
CXCR4 C-X-C chemokine receptor type 4 Up [75, 76, 8587] Yes
CXCR7 C-X-C chemokine receptor type 7 Down [76, 87] Yes
DCX Neuronal migration protein doublecortin Up [73, 74, 81] ?
DES Desmin Down [72, 79] Yes
DKFZP762M127 Unknown Up [73, 74, 81] Yes
DUSP4 Dual specificity phosphatase 4 Down [73, 81] ?
DZIP3 DAZ interacting protein 3, zinc finger Up [72, 74, 81] Yes
ELA1 Elastase-1 Up [22, 72, 74] Yes
ENC1 Ectodermal-neural cortex 1 (with BTB-like domain) Up [75, 76] Yes
ENO3 Enolase 3 (beta, muscle) Up [74, 79] ?
EPHA4 Ephrin type-A receptor 4 Up/down [76, 81, 82] Yes
FGFR2 Fibroblast growth factor receptor 2 Up [72, 76] Yes
FGFR4 Fibroblast growth factor receptor 4 Up [22, 73, 76, 88, 89] Yes
FLNB Filamin B, beta Down [76, 82] Yes
FNBP1 Formin-binding protein 1 Down [22, 75, 76] ?
FOXF1 Forkhead box protein F1 Up [22, 72, 74, 76, 81] Yes
FOXO1 Forkhead box O1 Up [75, 76] Yes
GADD45A Growth arrest and DNA-damage-inducible protein GADD45 alpha Up [73, 76, 81] Yes
GRAF GTPase regulator associated with FAK Up [22, 72] Yes
GTF3C1 General transcription factor 3C Up [72, 81] Yes
H19 Imprinted maternally expressed gene, untranslated mRNA Up [5, 79] Yes
HDAC5 Histone deacetylase 5 Up [73, 76] Yes
HUMMLC2B Myosin regulatory light chain 2, skeletal muscle isoform Down [72, 73] Yes
IGF2 Insulin-like growth factor II Up [5, 75] Yes
IGFBP3 IGF-binding protein 3 Down [73, 81] Yes
IGFBP5 IGF-binding protein 5 Up [5] Yes
IL4R Interleukin 4 receptor Up [72, 73, 75, 76] Yes
JAKMIP2 Janus kinase and microtubule-interacting protein 2 Up [7274, 76] Yes
KCNN3 Small conductance calcium-activated potassium channel protein 3 Up [73, 74, 81] Yes
KCNS3 Potassium voltage-gated channel subfamily S member 3 Up [73, 74] ?
LRRFIP2 Leucine-rich repeat (in FLII) interacting protein 2 Up [72, 74] Yes
MARCH3 Membrane-associated RING finger protein 3 Up [73, 81] Yes
MCAM Melanoma cell adhesion molecule Up [73, 81] Yes
MEG3 Maternally expressed 3 Up [7375] ?
MN1 Meningioma (disrupted in balanced translocation) 1 Up [73, 76] Yes
MET Hepatocyte growth factor receptor Up [73, 76, 81, 9092] Yes
MTUS2 Microtubule associated tumor suppressor candidate 2 Up [72, 76] Yes
MYBPH Myosin-binding protein H Up/down [5, 72, 75] Yes
MYCN N-MYC proto-oncogene protein Up [72, 73, 76, 78, 81] Yes
MYH8 Myosin, heavy chain 8, skeletal muscle, perinatal Up/down [5, 72] Yes
MYL1 Myosin, light chain 1, alkali; skeletal, fast Up/down [5, 79] Yes
MYL4 Myosin, light chain 4, alkali; atrial, embryonic Up/down [5, 72] Yes
MYOD Myoblast determination protein 1 Up [5, 73, 76, 81] Yes
MYOG Myogenin (myogenic factor 4) Up [5, 90] Yes
NEBL Nebulette Up/down [72, 73, 76, 81] Yes
NELL1 NEL-like protein 1 Up [22, 7274, 76] Yes
NHLH1 Nescient helix loop helix 1 Up [22, 76] Yes
NPTX2 Neuronal pentraxin II Down [76, 81] Yes
NRCAM Neuronal cell adhesion molecule Up [7274] Yes
OLIG2 Oligodendrocyte transcription factor 2 Up [22, 74] ?
PALMD Palmdelphin Down [72, 76] Yes
PBK PDZ-binding kinase Up [73, 76] Yes
PCDH7 Protocadherin 7 Up [76, 82] Yes
PDZRN3 PDZ domain containing ring finger 3 Up [74, 76] Yes
PGBD5 PiggyBac transposable element-derived protein 5 Up [22, 72, 74] Yes
PHF17 PHD finger protein 17 Up [74, 76] Yes
PIPOX Pipecolic acid oxidase Up [22, 72, 74, 76] Yes
PKP1 Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) Up [72, 76] Yes
PLAG1 Pleiomorphic adenoma gene 1 protein Down [75, 81] Yes
PLK2 Polo-like kinase 2 Down [73, 76] Yes
PODXL Podocalyxin-like protein 1 Up [22, 74, 76] Yes
POU4F1 Brain-specific homeobox/POU domain protein 3A Up [72, 73, 76] Yes
PPARGC1A Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha Up [22, 76] Yes
PRKAR2B Protein kinase, cAMP-dependent, regulatory, type II, beta Up [73, 81, 82] Yes
PRKCA Protein kinase C, alpha Up [73, 76] Yes
PSEN2 Presenilin 2 (Alzheimer’s disease 4) Up [73, 74] ?
PTHLT Parathyroid hormone-like hormone Up [76, 82] Yes
QDPR Quinoid dihydropteridine reductase Up [74, 81] Yes
RASSF4 Ras association (RalGDS/AF-6) domain family 4 Up [72, 74, 76] Yes
RRP22 Ras-like protein family member 10A, on chm 22 Up [73, 74] ?
RYR1 Skeletal muscle-type ryanodine receptor Up [5, 74] Yes
RYR3 Brain-type ryanodine receptor Up [74, 76, 81] Yes
SLC24A3 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Up [74, 76] Yes
SIX1 SIX homeobox 1 Up [5, 75] Yes
SOX14 SRY (sex determining region Y)-box 14 Up [22, 76] Yes
STX11 Syntaxin 11 Up [76, 82] Yes
SULF1 Sulfatase 1 Up [73, 76] Yes
SVIL Supervillin Down [72, 76] Yes
TCF712 Transcription factor 7-like 2 (T-cell specific, HMG-box) Up [73, 81] Yes
TGFB1 Transforming growth factor, beta 1 Up [5, 76] Yes
TFAP2B Transcription factor AP-2 beta Up [22, 72] Yes
TIAF1 TGF-beta-1-induced antiapoptotic factor 1 Up [73, 74] ?
TM4SF10 Transmembrane 4 superfamily member 10 Up [73, 81] Yes
TNFAIP3 Tumor necrosis factor, alpha-induced protein 3 Up [73, 76] Yes
TNNC2 Troponin C type 2 (fast) Up/down [5, 72, 73, 79] Yes
TNNI2 Troponin I type 2 (skeletal, fast) Up/down [5, 72] Yes
TNNT2 Troponin T type 2 (cardiac) Up [5, 79] Yes
TNNT3 Troponin T type 3 (skeletal, fast) Down [72, 79] Yes
TRAM2 Translocation-associated membrane protein 2 Up [73, 76] Yes
TSC22D2 TSC22 domain family, member 2 Up [74, 76] Yes
UBE2G2 Ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) Up [22, 76] Yes
WSCD1 WSC domain-containing protein 1 Up [22, 74] ?
WVA5A Von Willebrand factor A domain containing 5A Up [7274] Yes
  1. Summary of genes found to be differentially regulated in more than one reference in ARMS tumors and/or cell lines, or by PAX3-FOXO1 overexpression, in various cell types. Gene name and description are indicated and also the relative expression in ARMS or PAX3-FOXO1. Also indicated is whether the study indicates that these genes are downstream of PAX3-FOXO1 expression. Genes indicated in bold will be further discussed.